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Article

Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.

Clinical genetics - 1 Aug 2023

Zaki Maha S, Sharaf-Eldin Wessam E, Rafat Karima, Elbendary Hasnaa M, Kamel Mona, Elkhateeb Nour, Noureldeen Mahmoud M, Abdeltawab Mohamed A, Sadek Abdelrahim A, Essawi Mona L, Lau Tracy, Murphy David, Abdel-Hamid Mohamed S, Holuden Henry, Issa Mahmoud Y, Gleeson Joseph G

Abstract excerpt

This study presents 46 patients from 23 unrelated Egyptian families with ALS2-related disorders without evidence of lower motor neuron involvement. Age at onset ranged from 10 months to 2.5 years, featuring progressive upper motor neuron signs. Detailed clinical phenotypes demonstrated inter- and intrafamilial variability. We identified 16 homozygous disease-causing ALS2 variants; sorted as splice-site, missense,...

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Share to Amyotrophic Lateral Sclerosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37055917
DOI: 10.1111/cge.14338

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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